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Genetic testing for infantile nystagmus

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for infantile nystagmus (IN). Forms of IN associated with variations in CACNA1F, FRMD7 and GPR143 genes have X-linked recessive inheritance, whereas variations in SLC38A8, TYR an...

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Autors principals: Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo
Format: Artigo
Idioma:Inglês
Publicat: Sciendo 2017-10-01
Col·lecció:The EuroBiotech Journal
Accés en línia:https://doi.org/10.24190/ISSN2564-615X/2017/S1.18
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